Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due...

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Autores principales: Béziat, Vivien, Tavernier, Simon J., Chen, Yin-Huai, Ma, Cindy S., Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7971136/
https://www.ncbi.nlm.nih.gov/pubmed/32207811
http://dx.doi.org/10.1084/jem.20191804

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